SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS768485828 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS768486552 KCNV2 Health Risk Pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS768489439 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS768489564 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS768490475 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS768490891 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS768491249 GCK Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Transient Neonatal Diabetes
RS768492048 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS768492670 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases
RS768497622 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768498039 DNAJC3 Health Risk Conflicting classifications of pathogenicity Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
RS768498594 RRM2B Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RS768500612 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS768500706 ICOS Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS768502347 GANAB Health Risk Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS768502700 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS768503878 SKIC2 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS768504422 CPE Health Risk Pathogenic BDV syndrome, BDV syndrome
RS768505099 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS768507002 HSD11B2 Health Risk Likely pathogenic —
RS768507639 CHD7 Health Risk Conflicting classifications of pathogenicity CHD7-related disorder, CHARGE syndrome
RS768508076 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS768508859 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS768509914 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS768509996 DYM Health Risk Pathogenic/Likely pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS768510247 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS768510291 SSC5D Health Risk Conflicting classifications of pathogenicity —
RS768510442 CLCNKB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768510463 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS768511308 CEP250 Health Risk Pathogenic —
RS768511577 PHKA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768511801 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS768511849 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS768512190 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS768512381 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768513428 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS768514327 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS768514713 PC Health Risk Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS768515139 MSL3 Health Risk Pathogenic —
RS768517440 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Inborn genetic diseases
RS768517924 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS768520560 SERPING1 Health Risk Conflicting classifications of pathogenicity —
RS768521444 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS768521956 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS768522292 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS768522438 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS768522804 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768524028 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS768524076 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, NOTCH1-related disorder
RS768524608 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS768524626 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS768525869 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS768525914 H1-4 Health Risk Pathogenic Rahman syndrome, HIST1H1E-related neurodevelopmental disorder with multiple anomalies
RS768526062 CFH Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Hemolytic uremic syndrome
RS768526890 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS768527231 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS768527925 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, AGRN-related disorder
RS768527987 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS768528387 NMNAT1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Leber congenital amaurosis 9
RS768528444 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS768528782 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS768528861 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS768529407 NEFH Health Risk Conflicting classifications of pathogenicity NEFH-related disorder, NEFH-related disorder
RS768530117 GRHPR Health Risk Pathogenic —
RS768530578 THAP7;LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS768530598 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768531108 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS768531262 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS768531339 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768531445 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS768531502 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS768532317 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS768532556 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS768532620 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS768534430 COL4A5 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS768535330 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS768536067 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS768536266 MPL Health Risk Pathogenic/Likely pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS768536269 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 15
RS768536854 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS768537235 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS768537319 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768537535 SLC12A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS768538095 OTOA Health Risk Pathogenic —
RS768538177 PREPL Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS768538183 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS768539100 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS768539360 KATNIP Health Risk Pathogenic —
RS768539376 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Centronuclear myopathy
RS768539794 MPDZ Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS768542626 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS768542908 MYH3 Health Risk Conflicting classifications of pathogenicity —
RS768543030 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS768545162 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768545712 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS768546511 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS768546704 TMTC3 Health Risk Pathogenic/Likely pathogenic Lissencephaly 8, Lissencephaly 8
RS768547540 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS768548319 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS768551828 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
« Prev 1 ... 3496 3497 3498 3499 3500 3501 3502 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →